ClinVar Miner

Variants in gene ARID1B

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
167 42 104 105 34 1 1 422

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 90 18 35 12 8 0 1 162
History of neurodevelopmental disorder 3 0 26 62 27 0 0 118
not specified 0 0 37 44 15 0 0 95
Coffin-Siris syndrome 1 69 14 3 0 0 0 0 85
Inborn genetic diseases 16 3 2 0 0 0 0 21
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 4 0 0 0 0 0 0 4
Coffin Siris/Intellectual Disability 2 0 2 0 0 0 0 4
Coffin-Siris syndrome 0 2 1 0 0 0 0 3
Intellectual disability 0 0 0 2 0 0 0 2
Marfanoid habitus and intellectual disability 0 2 0 0 0 0 0 2
See cases 1 1 0 0 0 0 0 2
Astrocytoma 0 0 1 0 0 0 0 1
Corpus callosum agenesis; Hypertrichosis; Global developmental delay; Neonatal hypotonia; Nail dysplasia 1 0 0 0 0 0 0 1
Hypertrichosis; Global developmental delay; Bilateral cryptorchidism; Delayed speech and language development; Intellectual disability; Neurological speech impairment 0 1 0 0 0 0 0 1
Medulloblastoma 0 0 0 0 0 1 0 1
Neurodevelopmental delay 0 0 1 0 0 0 0 1
Nicolaides-Baraitser syndrome 1 0 0 0 0 0 0 1
Seizures; Short stature; Failure to thrive; Constipation; Recurrent respiratory infections; Microcephaly; Decreased body weight 0 0 1 0 0 0 0 1
Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangiomas; Congenital talipes calcaneovalgus 1 0 0 0 0 0 0 1
intellectual deficiency; dysmorphy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Ambry Genetics 19 3 28 62 27 0 0 139
Genetic Services Laboratory, University of Chicago 17 2 34 41 15 0 0 109
GeneDx 84 8 11 2 0 0 0 105
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 4 9 3 0 0 17
Baylor Genetics 15 0 0 0 0 0 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 9 1 0 0 0 14
OMIM 12 0 0 0 0 0 0 12
Gharavi Laboratory,Columbia University 0 0 10 0 0 0 0 10
Invitae 0 0 0 2 5 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 1 0 0 0 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 2 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 0 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 3 0 0 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 0 5
Institute of Human Genetics,Cologne University 2 2 0 0 0 0 0 4
Mendelics 4 0 0 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 4 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 1 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 2 0 0 0 0 0 3
Laboratory of Molecular Genetics,CHU RENNES 0 3 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 1 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
ISCA site 1 1 1 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 1 0 0 0 0 1
Lineagen, Inc 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 1

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